Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.300 Biomarker disease GENOMICS_ENGLAND Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. 19416762 2009
Entrez Id: 1969
Gene Symbol: EPHA2
EPHA2 		0.300 Biomarker disease CTD_human Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid. 22845314 2012
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.300 Biomarker disease GENOMICS_ENGLAND A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. 25423878 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease. 11685670 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 Biomarker disease GENOMICS_ENGLAND Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 Biomarker disease GENOMICS_ENGLAND PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005